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Tests and diagnosis
By Mayo Clinic staffDiagnosing Rett syndrome involves careful observation of your child's growth and development and answering questions about her or his medical and family history.
Your child may also have certain tests to help rule out conditions that can cause some of the same symptoms as Rett syndrome. Some of these include:
- Other genetic disorders
- Autism
- Cerebral palsy
- Hearing or vision problems
- Epilepsy
- Disorders that cause the brain or body to break down (degeneration disorders)
- Brain disorders caused by trauma or infection
- Prenatal brain damage
The tests your child needs depend on her or his particular signs and symptoms. They can include:
- Blood tests
- Urine tests
- Tests to measure the speed of impulses through a nerve (nerve conduction studies)
- Imaging tests such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans
- Hearing tests
- Eye and vision examinations
- Brain activity tests (electroencephalograms, also called EEG tests)
Genetic testing
A genetic test (DNA analysis) may be used to confirm a diagnosis of Rett syndrome. The test requires drawing a small amount of blood from a vein in your child's arm. The blood is then sent to a lab, where your child's DNA is examined for abnormalities that may give clues as to the cause and severity of your child's disorder.
If your child's doctor still suspects Rett syndrome after considering other possibilities, he or she will use specific guidelines for diagnosis.
Official diagnostic criteria
There are different criteria used to diagnose Rett syndrome, but all include similar signs and symptoms. One commonly used set of criteria are spelled out in the Diagnostic and Statistical Manual of Mental Disorders (DSM), published by the American Psychiatric Association.
The criteria required for a diagnosis of Rett syndrome include:
- Apparently normal development for the first five months after birth
- Normal head circumference at birth, followed by a slowing of the rate of head growth between the ages of 5 months and 4 years
- Severely reduced language skills
- Loss of hand skills and development of repetitive hand movements between the ages of 5 months and 30 months
- Loss of interaction with others (though this often improves later)
- An unsteady walk or poorly controlled torso movements
- Severely impaired ability to communicate and move normally
In addition to these core symptoms, children with Rett syndrome may have other signs and symptoms. Unless these core symptoms are present, however, your child does not have Rett syndrome.
- Shultz RJ, et al. Rett syndrome. http://www.uptodate.com/home/index.html. Accessed May 14, 2010.
- What is Rett syndrome? National Institute of Child Health and Human Development. http://www.nichd.nih.gov/publications/pubs/upload/rett_syndrome_2006.pdf#page=6. Accessed May 14, 2010.
- Rett syndrome. Genetics Home Reference. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition=rettsyndrome. Accessed May 14, 2010.
- Rett syndrome. National Institute of Child Health and Human Development. http://www.nichd.nih.gov/health/topics/Rett_Syndrome.cfm?renderforprint=1. Accessed May 13, 2010.
- Chahrour M, et al. The story of Rett syndrome: From clinic to neurobiology. Neuron. 2007;56:422.
- Hagberg B, et al. An update on clinically applicable diagnostic criteria in Rett syndrome. European Journal of Pediatric Neurology. 2002;6:293.
- Rett's Disorder. In: Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR. 4th ed. Arlington, Va.: American Psychiatric Association; 2000. http://www.psychiatryonline.com. Accessed June 8, 2010.
- Lotan M, et al. Management of young children with Rett disorder in the controlled multi-sensory (Snoezelen) environment. Brain & Development 2005;27:S88.
- Alternative therapeutic intervention for individuals with Rett syndrome. The Scientific World Journal. 2007;29:698.
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